Canonical Allele Identifier: CA480081517

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308102-G-T
• MyVariant Identifiers: chr12:g.53701886G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308102G>T , CM000674.2:g.53308102G>T	GRCh38
NC_000012.11:g.53701886G>T , CM000674.1:g.53701886G>T	GRCh37
NC_000012.10:g.51988153G>T	NCBI36
NG_016775.1:g.18527C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1281C>A MANE Select	ENSP00000209873.4:p.Val427=
ENST00000546562.6:n.2345C>A
ENST00000547238.6:n.1917C>A
ENST00000547520.6:n.1275C>A
ENST00000547757.2:c.330C>A	ENSP00000448020.2:p.Val110=
ENST00000548880.2:n.1731C>A
ENST00000548931.6:c.801C>A	ENSP00000457518.1:p.Val267=
ENST00000549450.6:n.1215C>A
ENST00000552161.6:n.2237C>A
ENST00000672797.1:n.1770C>A
ENST00000672900.1:n.2371C>A
ENST00000209873.8:c.1281C>A	ENSP00000209873.4:p.Val427=
ENST00000394384.7:c.1182C>A	ENSP00000377908.3:p.Val394=
ENST00000548931.5:c.801C>A	ENSP00000457518.1:p.Val267=
ENST00000550033.5:n.536C>A
ENST00000550286.5:c.909C>A	ENSP00000446885.1:p.Val303=
ENST00000552876.5:n.1624C>A
NM_001173466.1:c.1182C>A	NP_001166937.1:p.Val394=
NM_015665.5:c.1281C>A	NP_056480.1:p.Val427=
XM_006719617.2:c.1296C>A	XP_006719680.1:p.Val432=
XM_011538777.1:c.1296C>A	XP_011537079.1:p.Val432=
XM_011538778.1:c.1281C>A	XP_011537080.1:p.Val427=
XM_011538779.1:c.1197C>A	XP_011537081.1:p.Val399=
XM_011538780.1:c.1182C>A	XP_011537082.1:p.Val394=
XM_011538781.1:c.630C>A	XP_011537083.1:p.Val210=
XM_011538778.2:c.1281C>A	XP_011537080.1:p.Val427=
XM_011538780.2:c.1182C>A	XP_011537082.1:p.Val394=
XR_001748875.2:n.1338C>A
NM_015665.6:c.1281C>A MANE Select	NP_056480.1:p.Val427=
NM_001173466.2:c.1182C>A	NP_001166937.1:p.Val394=